Epidermolysis bullosa and congenital skin fragility
Gene: KRT1
Following discussion with the Genomics England clinical team KRT1 can be classified as Green.Created: 4 Dec 2019, 10:30 a.m. | Last Modified: 4 Dec 2019, 10:30 a.m.
Panel Version: 0.24
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:KRT1; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.15
Note from John McGrath (email correspondance): There is an argument to have KRT1, KRT10 and KRT2 as green genes as patients can present with skin fragility initially before the ichthyosis phenotype ensues.Created: 7 Jan 2019, 4:50 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epidermolytic hyperkeratosis, 113800; EHK; Islands of superficial peeling on the skin of the trunk and the extensor surface of the legs
Phenotypes for gene: KRT1 were changed from EHK; Epidermolytic hyperkeratosis, 113800; Islands of superficial peeling on the skin of the trunk and the extensor surface of the legs to Epidermolytic hyperkeratosis, OMIM:113800
Gene: krt1 has been classified as Green List (High Evidence).
Source Expert Review Amber was added to KRT1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: KRT1 was added gene: KRT1 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red Mode of inheritance for gene: KRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KRT1 were set to EHK; Epidermolytic hyperkeratosis, 113800; Islands of superficial peeling on the skin of the trunk and the extensor surface of the legs